TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male...
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University of Mazandaran
2019-07-01
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doaj-c8cb662adcc54d79a0145e81cbd8cd0d2021-08-18T09:18:48ZengUniversity of MazandaranJournal of Genetic Resources2423-42572588-25892019-07-015214314810.22080/jgr.2019.17556.11582423TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian PedigreeSadegh Rajabi0Romina Dastmalchi1Mohammad Hossein Dehghan2Ali Eftekharian3Elmira Aghazadeh4Sayyed Mohammad Hossein Ghaderian5Department of Clinical Biochemistry, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, IranBiochemistry Department, School of Medicine, Alborz University of Medical Sciences, Karaj, IranDepartment of Otorhinolaryngology, Loghman Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, IranHereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory. The molecular genetic analysis detected an atypical heterozygous variant -c.1012G > C, p.G338R in exon 5 of the TJP2 gene on chromosome 9 position 71836379 (GRch37). Segregation analysis for his parents has uncovered the same mutation in the patient’s mother, but without any deafness phenotype. This case report provided evidence to demonstrate for the first time the incomplete penetrance of this TJP2 mutation and proposed this mutation as a “likely pathogenic” variant in an Iranian pedigree.http://sc.journals.umz.ac.ir/article_2423_1c315d1cec69834d21e7b95aa8464c0a.pdfhereditary hearing lossmissense mutationincomplete penetrancetjp2 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sadegh Rajabi Romina Dastmalchi Mohammad Hossein Dehghan Ali Eftekharian Elmira Aghazadeh Sayyed Mohammad Hossein Ghaderian |
spellingShingle |
Sadegh Rajabi Romina Dastmalchi Mohammad Hossein Dehghan Ali Eftekharian Elmira Aghazadeh Sayyed Mohammad Hossein Ghaderian TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree Journal of Genetic Resources hereditary hearing loss missense mutation incomplete penetrance tjp2 |
author_facet |
Sadegh Rajabi Romina Dastmalchi Mohammad Hossein Dehghan Ali Eftekharian Elmira Aghazadeh Sayyed Mohammad Hossein Ghaderian |
author_sort |
Sadegh Rajabi |
title |
TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree |
title_short |
TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree |
title_full |
TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree |
title_fullStr |
TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree |
title_full_unstemmed |
TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree |
title_sort |
tjp2 gene mutation c.g1012a may responsible for congenital hearing loss with incomplete penetrance in an iranian pedigree |
publisher |
University of Mazandaran |
series |
Journal of Genetic Resources |
issn |
2423-4257 2588-2589 |
publishDate |
2019-07-01 |
description |
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory. The molecular genetic analysis detected an atypical heterozygous variant -c.1012G > C, p.G338R in exon 5 of the TJP2 gene on chromosome 9 position 71836379 (GRch37). Segregation analysis for his parents has uncovered the same mutation in the patient’s mother, but without any deafness phenotype. This case report provided evidence to demonstrate for the first time the incomplete penetrance of this TJP2 mutation and proposed this mutation as a “likely pathogenic” variant in an Iranian pedigree. |
topic |
hereditary hearing loss missense mutation incomplete penetrance tjp2 |
url |
http://sc.journals.umz.ac.ir/article_2423_1c315d1cec69834d21e7b95aa8464c0a.pdf |
work_keys_str_mv |
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